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Items: 1 to 20 of 145

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074786inversion1nstd229human GRCh38 chr12: 47,059,202-48,408,098 , GRCh37.p13 chr12: 47,452,985-48,801,881 LOC102725258, RPAP3, 42 more genes
    nsv6938073copy number variation1nstd229human GRCh38 chr12: 47,750,545-47,854,045 , GRCh37.p13 chr12: 48,144,328-48,247,828 VDR, LINC02354, 3 more genes
    nsv6937692copy number variation1nstd229human GRCh38 chr12: 47,786,505-47,788,780 , GRCh37.p13 chr12: 48,180,288-48,182,563 HDAC7
    nsv6935914copy number variation1nstd229human GRCh38 chr12: 47,809,819-47,813,438 , GRCh37.p13 chr12: 48,203,602-48,207,221 HDAC7
    nsv6934878copy number variation1nstd229human GRCh38 chr12: 47,750,825-47,800,648 , GRCh37.p13 chr12: 48,144,608-48,194,431 SLC48A1, RAPGEF3, 1 more genes
    nsv6931191copy number variation1nstd229human GRCh38 chr12: 47,814,552-47,817,916 , GRCh37.p13 chr12: 48,208,335-48,211,699 HDAC7
    nsv6928470copy number variation1nstd229human GRCh38 chr12: 47,800,537-47,800,891 , GRCh37.p13 chr12: 48,194,320-48,194,674 HDAC7
    nsv6927770copy number variation1nstd229human GRCh38 chr12: 47,710,401-47,954,800 , GRCh37.p13 chr12: 48,104,184-48,348,583 SLC48A1, HDAC7, 5 more genes
    nsv6920817copy number variation1nstd229human GRCh38 chr12: 47,818,181-47,818,506 , GRCh37.p13 chr12: 48,211,964-48,212,289 HDAC7
    nsv6918924copy number variation1nstd229human GRCh38 chr12: 47,779,199-47,782,301 , GRCh37.p13 chr12: 48,172,982-48,176,084 HDAC7, SLC48A1
    nsv6918659copy number variation1nstd229human GRCh38 chr12: 47,815,665-47,815,722 , GRCh37.p13 chr12: 48,209,448-48,209,505 HDAC7
    nsv6634445copy number variation1nstd102humanPathogenic GRCh37 chr12: 44,661,149-48,921,204 , GRCh38.p12 chr12: 44,267,366-48,527,421 ZNF641, MIR4698, 77 more genes
    nsv6241004mobile element insertion1nstd215human GRCh38 chr12: 47,797,247-47,797,247 , GRCh37.p13 chr12: 48,191,030-48,191,030 HDAC7
    nsv6132248copy number variation1nstd213human GRCh37 chr12: 45,960,000-49,240,001 , GRCh38.p12 chr12: 45,566,217-48,846,218 LALBA, VDR, 83 more genes
    nsv6098051insertion1nstd212human GRCh38 chr12: 47,797,234-47,797,234 , GRCh37.p13 chr12: 48,191,017-48,191,017 HDAC7
    nsv5700358mobile element insertion1nstd211human GRCh38 chr12: 47,797,247-47,797,247 , GRCh37.p13 chr12: 48,191,030-48,191,030 HDAC7
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5432245mobile element insertion1nstd206human GRCh38 chr12: 47,797,247-47,797,249 , GRCh37.p13 chr12: 48,191,030-48,191,032 HDAC7
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
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